Incidental Mutation 'R3731:Phtf1'
ID |
270972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phtf1
|
Ensembl Gene |
ENSMUSG00000058388 |
Gene Name |
putative homeodomain transcription factor 1 |
Synonyms |
Phft |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3731 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103893095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 120
(M120V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055425]
[ENSMUST00000063717]
[ENSMUST00000090685]
[ENSMUST00000117150]
[ENSMUST00000123611]
[ENSMUST00000145727]
[ENSMUST00000150849]
[ENSMUST00000156262]
|
AlphaFold |
Q9QZ09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055425
AA Change: M67V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058137 Gene: ENSMUSG00000058388 AA Change: M67V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
60 |
8.6e-31 |
PFAM |
Pfam:Phtf-FEM1B_bdg
|
57 |
105 |
5.2e-18 |
PFAM |
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
low complexity region
|
294 |
317 |
N/A |
INTRINSIC |
transmembrane domain
|
470 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
557 |
579 |
N/A |
INTRINSIC |
transmembrane domain
|
594 |
611 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063717
AA Change: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066607 Gene: ENSMUSG00000058388 AA Change: M120V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
5 |
151 |
9.9e-73 |
PFAM |
low complexity region
|
155 |
163 |
N/A |
INTRINSIC |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090685
AA Change: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088184 Gene: ENSMUSG00000058388 AA Change: M120V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
8.9e-89 |
PFAM |
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
transmembrane domain
|
428 |
447 |
N/A |
INTRINSIC |
transmembrane domain
|
467 |
489 |
N/A |
INTRINSIC |
transmembrane domain
|
565 |
587 |
N/A |
INTRINSIC |
transmembrane domain
|
602 |
619 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117150
AA Change: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113973 Gene: ENSMUSG00000058388 AA Change: M120V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
1.6e-88 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123611
AA Change: M101V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116193 Gene: ENSMUSG00000058388 AA Change: M101V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
9 |
139 |
1.7e-67 |
PFAM |
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145727
AA Change: M120V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114722 Gene: ENSMUSG00000058388 AA Change: M120V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
1.6e-88 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150090
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150849
AA Change: M120V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000118281 Gene: ENSMUSG00000058388 AA Change: M120V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
4.5e-90 |
PFAM |
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156262
AA Change: M67V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121036 Gene: ENSMUSG00000058388 AA Change: M67V
Domain | Start | End | E-Value | Type |
Pfam:Phtf-FEM1B_bdg
|
3 |
60 |
1e-31 |
PFAM |
Pfam:Phtf-FEM1B_bdg
|
57 |
105 |
7.2e-19 |
PFAM |
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0763 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
T |
A |
16: 14,427,485 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
T |
16: 20,217,684 (GRCm39) |
Y5* |
probably null |
Het |
Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
Adar |
T |
C |
3: 89,653,962 (GRCm39) |
I325T |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,261,125 (GRCm39) |
S92P |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,061,528 (GRCm39) |
V771E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,047,708 (GRCm39) |
S492P |
possibly damaging |
Het |
Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
Dennd2d |
T |
G |
3: 106,407,271 (GRCm39) |
F441V |
probably damaging |
Het |
Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
Disp3 |
A |
G |
4: 148,337,284 (GRCm39) |
S844P |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,722 (GRCm39) |
K286E |
probably damaging |
Het |
Fam228a |
T |
C |
12: 4,768,671 (GRCm39) |
E203G |
probably benign |
Het |
Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
Hrob |
A |
G |
11: 102,148,732 (GRCm39) |
E381G |
possibly damaging |
Het |
Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
Ints4 |
A |
G |
7: 97,155,308 (GRCm39) |
Q320R |
probably benign |
Het |
Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
Loxl3 |
T |
C |
6: 83,027,652 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
Mbd6 |
A |
G |
10: 127,121,637 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nepn |
A |
T |
10: 52,280,110 (GRCm39) |
N401Y |
probably damaging |
Het |
Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
Npas3 |
T |
C |
12: 53,401,175 (GRCm39) |
I40T |
probably benign |
Het |
Or1e29 |
T |
C |
11: 73,667,565 (GRCm39) |
E196G |
probably benign |
Het |
Or1j19 |
A |
T |
2: 36,676,578 (GRCm39) |
I14F |
possibly damaging |
Het |
Or2d4 |
T |
A |
7: 106,543,684 (GRCm39) |
N175Y |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,535,962 (GRCm39) |
D268V |
probably damaging |
Het |
Or5p73 |
T |
C |
7: 108,064,633 (GRCm39) |
I34T |
possibly damaging |
Het |
Or8g33 |
T |
A |
9: 39,338,365 (GRCm39) |
M1L |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,471,193 (GRCm39) |
Y988C |
probably benign |
Het |
Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
Serpina1d |
T |
A |
12: 103,734,164 (GRCm39) |
N47Y |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sirpb1c |
T |
C |
3: 15,887,287 (GRCm39) |
K184R |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Upp2 |
T |
C |
2: 58,645,379 (GRCm39) |
S41P |
probably benign |
Het |
Vmn1r10 |
A |
G |
6: 57,090,719 (GRCm39) |
T104A |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,485,349 (GRCm39) |
S838R |
possibly damaging |
Het |
Zer1 |
A |
G |
2: 30,000,923 (GRCm39) |
V166A |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,956,308 (GRCm39) |
N897D |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably damaging |
Het |
|
Other mutations in Phtf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:Phtf1
|
APN |
3 |
103,895,983 (GRCm39) |
missense |
probably benign |
|
IGL01139:Phtf1
|
APN |
3 |
103,912,918 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01677:Phtf1
|
APN |
3 |
103,906,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02169:Phtf1
|
APN |
3 |
103,904,815 (GRCm39) |
missense |
probably benign |
|
IGL02542:Phtf1
|
APN |
3 |
103,901,222 (GRCm39) |
splice site |
probably benign |
|
IGL02557:Phtf1
|
APN |
3 |
103,906,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02697:Phtf1
|
APN |
3 |
103,904,879 (GRCm39) |
missense |
probably benign |
|
IGL02807:Phtf1
|
APN |
3 |
103,904,869 (GRCm39) |
missense |
probably benign |
0.00 |
R0140:Phtf1
|
UTSW |
3 |
103,894,876 (GRCm39) |
missense |
probably null |
1.00 |
R0555:Phtf1
|
UTSW |
3 |
103,911,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Phtf1
|
UTSW |
3 |
103,901,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Phtf1
|
UTSW |
3 |
103,894,750 (GRCm39) |
nonsense |
probably null |
|
R1799:Phtf1
|
UTSW |
3 |
103,903,958 (GRCm39) |
missense |
probably benign |
0.01 |
R1804:Phtf1
|
UTSW |
3 |
103,894,883 (GRCm39) |
unclassified |
probably benign |
|
R1921:Phtf1
|
UTSW |
3 |
103,876,438 (GRCm39) |
nonsense |
probably null |
|
R1943:Phtf1
|
UTSW |
3 |
103,901,198 (GRCm39) |
nonsense |
probably null |
|
R2006:Phtf1
|
UTSW |
3 |
103,911,799 (GRCm39) |
critical splice donor site |
probably null |
|
R3729:Phtf1
|
UTSW |
3 |
103,893,095 (GRCm39) |
missense |
probably benign |
0.00 |
R4051:Phtf1
|
UTSW |
3 |
103,912,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4210:Phtf1
|
UTSW |
3 |
103,910,919 (GRCm39) |
critical splice donor site |
probably null |
|
R4211:Phtf1
|
UTSW |
3 |
103,910,919 (GRCm39) |
critical splice donor site |
probably null |
|
R4730:Phtf1
|
UTSW |
3 |
103,894,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4982:Phtf1
|
UTSW |
3 |
103,906,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R5314:Phtf1
|
UTSW |
3 |
103,906,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R5321:Phtf1
|
UTSW |
3 |
103,910,827 (GRCm39) |
missense |
probably benign |
0.31 |
R5499:Phtf1
|
UTSW |
3 |
103,898,491 (GRCm39) |
missense |
probably benign |
0.00 |
R6134:Phtf1
|
UTSW |
3 |
103,911,721 (GRCm39) |
missense |
probably damaging |
0.99 |
R6603:Phtf1
|
UTSW |
3 |
103,901,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7242:Phtf1
|
UTSW |
3 |
103,906,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R7311:Phtf1
|
UTSW |
3 |
103,904,980 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7519:Phtf1
|
UTSW |
3 |
103,876,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R7601:Phtf1
|
UTSW |
3 |
103,901,161 (GRCm39) |
missense |
probably benign |
0.03 |
R7657:Phtf1
|
UTSW |
3 |
103,876,429 (GRCm39) |
missense |
probably benign |
0.00 |
R8354:Phtf1
|
UTSW |
3 |
103,911,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R8454:Phtf1
|
UTSW |
3 |
103,911,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Phtf1
|
UTSW |
3 |
103,910,792 (GRCm39) |
missense |
probably benign |
0.39 |
R9020:Phtf1
|
UTSW |
3 |
103,898,694 (GRCm39) |
nonsense |
probably null |
|
R9295:Phtf1
|
UTSW |
3 |
103,904,893 (GRCm39) |
missense |
probably benign |
0.00 |
R9682:Phtf1
|
UTSW |
3 |
103,901,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9798:Phtf1
|
UTSW |
3 |
103,904,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGGATATTCCTGCTTCCAG -3'
(R):5'- TCAGCATCAAACAACTGTCATTTCG -3'
Sequencing Primer
(F):5'- CCAGTTTGCAGATATTTCCAGGAG -3'
(R):5'- CAACTGTCATTTCGTCAAATATGC -3'
|
Posted On |
2015-03-18 |